Variant report

Variant	nsv508231
Chromosome Location	chr3:99442020-99498951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:70951075..70951596-chr3:99465594..99466120,2	MCF-7	breast:
2	chr3:98833207..98833983-chr3:99472028..99472879,3	MCF-7	breast:
3	chr3:99498216..99500096-chr3:99501454..99503765,4	K562	blood:
4	chr3:98742176..98742700-chr3:99472216..99472863,2	K562	blood:
5	chr3:99364273..99364791-chr3:99466705..99467456,2	MCF-7	breast:
6	chr3:99363901..99364505-chr3:99472181..99472859,2	K562	blood:
7	chr3:99217180..99218833-chr3:99471535..99472845,8	MCF-7	breast:
8	chr3:99250812..99251418-chr3:99471853..99472489,2	MCF-7	breast:
9	chr3:98536189..98537072-chr3:99472125..99472692,2	K562	blood:
10	chr3:99497311..99499461-chr3:99505852..99508651,2	K562	blood:
11	chr3:99363705..99364768-chr3:99471880..99472933,4	MCF-7	breast:
12	chr3:99497696..99500185-chr3:99535377..99538184,2	K562	blood:
13	chr3:99460540..99463119-chr3:99475037..99476950,2	K562	blood:
14	chr3:99460540..99463119-chr3:99475037..99476950,2	K562	blood:
15	chr3:98710011..98710837-chr3:99472135..99472811,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184220	chromatin interactions
ENSG00000057019	chromatin interactions

Extended variants
information (count: 1961 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1961 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377119866	chr3:99442099-99442100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115526205	chr3:99442120-99442121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552097168	chr3:99442150-99442151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565719768	chr3:99442158-99442159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149758951	chr3:99442162-99442163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528074705	chr3:99442215-99442216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145672264	chr3:99442246-99442247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567988031	chr3:99442285-99442286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535488675	chr3:99442289-99442290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550416307	chr3:99442292-99442293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11710081	chr3:99442299-99442300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9829880	chr3:99442304-99442305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34050714	chr3:99442335-99442336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs654236	chr3:99442338-99442339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148900258	chr3:99442364-99442365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143568771	chr3:99442380-99442381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557610182	chr3:99442384-99442385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183340684	chr3:99442386-99442387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138092150	chr3:99442419-99442420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558605874	chr3:99442448-99442449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142135053	chr3:99442477-99442478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537695678	chr3:99442521-99442522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73860420	chr3:99442526-99442527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573958981	chr3:99442539-99442540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544683038	chr3:99442544-99442545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562887481	chr3:99442631-99442632	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114053385	chr3:99442667-99442668	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201238653	chr3:99442710-99442711	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4928219	chr3:99442745-99442746	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs506186	chr3:99442753-99442754	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527959231	chr3:99442774-99442775	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4928143	chr3:99442780-99442781	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376345563	chr3:99442785-99442786	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs652026	chr3:99442809-99442810	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs528925202	chr3:99442883-99442884	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138697484	chr3:99442907-99442908	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568887984	chr3:99442938-99442939	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs651511	chr3:99442950-99442951	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551127417	chr3:99442989-99442990	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566353351	chr3:99443062-99443063	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141176096	chr3:99443103-99443104	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564876317	chr3:99443129-99443130	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188756279	chr3:99443189-99443190	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541388503	chr3:99443230-99443231	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567647098	chr3:99443253-99443254	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537877591	chr3:99443270-99443271	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556603009	chr3:99443281-99443282	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556314998	chr3:99443293-99443294	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372635521	chr3:99443295-99443296	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192593972	chr3:99443340-99443341	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99428200-99442800	Weak transcription	Aorta	Aorta
2	chr3:99433600-99449200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:99438200-99442200	Enhancers	HUVEC	blood vessel
4	chr3:99438600-99442600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:99440200-99458000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:99440400-99442800	Weak transcription	Adipose Nuclei	Adipose
7	chr3:99440400-99444600	Weak transcription	NHLF	lung
8	chr3:99440400-99448600	Weak transcription	HSMM	muscle
9	chr3:99440400-99450200	Weak transcription	HSMMtube	muscle
10	chr3:99440400-99458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:99440400-99458200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:99440400-99471000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:99440600-99449200	Weak transcription	NHDF-Ad	bronchial
14	chr3:99440800-99449400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:99441200-99448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:99441200-99458000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:99441400-99466800	Weak transcription	NH-A	brain
18	chr3:99442000-99442600	Weak transcription	Osteobl	bone
19	chr3:99442200-99448800	Weak transcription	HUVEC	blood vessel
20	chr3:99442600-99443200	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr3:99442600-99444200	Strong transcription	Osteobl	bone
22	chr3:99442800-99443000	Enhancers	Adipose Nuclei	Adipose
23	chr3:99442800-99443000	Enhancers	Fetal Lung	lung
24	chr3:99442800-99443400	Genic enhancers	Aorta	Aorta
25	chr3:99443200-99443400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:99443400-99443600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:99443400-99471400	Weak transcription	Aorta	Aorta
28	chr3:99443600-99443800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:99443800-99449800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:99444200-99448000	Weak transcription	Osteobl	bone
31	chr3:99448000-99451000	Strong transcription	Osteobl	bone
32	chr3:99448600-99449400	Strong transcription	HSMM	muscle
33	chr3:99448600-99450600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:99448800-99449600	Strong transcription	HUVEC	blood vessel
35	chr3:99449200-99450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:99449200-99450400	Enhancers	NHDF-Ad	bronchial
37	chr3:99449400-99450400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:99449400-99458000	Weak transcription	HSMM	muscle
39	chr3:99449600-99463400	Weak transcription	HUVEC	blood vessel
40	chr3:99449800-99450600	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr3:99450200-99450400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:99450200-99450600	Enhancers	Adipose Nuclei	Adipose
43	chr3:99450400-99450600	Enhancers	HSMMtube	muscle
44	chr3:99450400-99458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:99450400-99463600	Weak transcription	NHDF-Ad	bronchial
46	chr3:99450400-99463800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:99450600-99458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:99450600-99458000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:99451000-99460400	Weak transcription	Osteobl	bone
50	chr3:99457400-99459800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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